معرفی
Mustafa Khokha, MD, is an Adjunct Professor in the Department of Pediatrics at Yale School of Medicine. His research focuses on understanding the molecular mechanisms underlying congenital malformations and critical illnesses in infants using genetic sequencing and Xenopus tropicalis as a model system. He directs the Pediatric Genomics Discovery Program (PGDP), which identifies genetic causes of undiagnosed diseases in children. Khokha’s work bridges clinical care and research, aiming to translate genetic discoveries into improved patient outcomes.
- Education: MD from Northwestern University Medical School (1995), BS from Northwestern University (1991), Residency in Pediatrics at St. Louis Children's Hospital (1995–98), Fellowship in Pediatric Critical Care at University of California, San Francisco (2002), and Fellowship in Molecular & Cell Biology at University of California, Berkeley (2006).
His research integrates developmental biology and genetics to study embryonic patterning defects, particularly in congenital heart disease and facial malformations. Using high-throughput screens in Xenopus, he identifies genes responsible for birth defects and elucidates their functional roles.
Key achievements include discovering the role of GALNT11 in laterality and cilia function, and linking CACNA1G to left-right patterning. His work on β-catenin nuclear transport and Wnt signaling has advanced understanding of developmental pathways.
Awards: Mallinckrodt Scholar (2014), Mae Gailani Junior Faculty Teaching Award (2010), Harvey Colten Award (2009).
Labs/Teams: Khokha Lab, part of the Program in Translational Biomedicine and the Yale Center for Genomic Health. Collaborations include the Pediatric Critical Care Transport Program and the Yale Medicine team.